What is thalassemia? Thalassemia gene test before pregnancy

Thalassemia is a type of hemolytic anemia caused by autosomal genetic defects, which leads to impaired globin chain synthesis, resulting in insufficient or complete lack of one or several globins, making red blood cells easily lysed and destroyed. So how do we check for this disease?

Thalassemia: A genetic disease

According to incomplete statistics, in southern my country, one out of every 10 people carries the genetic gene for thalassemia (abbreviated as thalassemia).

Thalassemia is a group of hereditary diseases that occur because of genetic abnormalities that lead to abnormal structures of hemoglobin, the most important substance in red blood cells in the blood. As a result, red blood cells become easily broken, which causes hemolysis and causes anemia.

Depending on the location of the gene abnormality, thalassemia is divided into type α and type β; depending on the severity of anemia, thalassemia is divided into mild, intermediate and severe.

Mild cases generally have no symptoms and do not require treatment, thus giving people the illusion of being “healthy and disease-free”.

However, if both husband and wife are carriers of the thalassemia gene and look like normal people with mild symptoms, the children they give birth to may be severe patients.

Fetuses with severe α-thalassemia often die in utero; if severe β-thalassemia is not treated in time, the fetuses often die in infancy due to chronic hemolysis or repeated infections.

Premarital examination: It is completely possible to find out

Although thalassemia is caused by gene mutation, which seems to be a fact that cannot be reversed or changed, it is actually a preventable disease.

As long as both men and women undergo pre-marital or pre-pregnancy checkups and clearly understand whether either of them is carrying the thalassemia gene, during pregnancy, the doctor will provide targeted prenatal check-up guidance based on the situation, thereby avoiding the birth of children with moderate or severe thalassemia.

First, you can check your blood routine, which costs only a few dozen yuan and can help you find out whether you have anemia or whether there are any abnormalities in the red blood cell morphology. If there is doubt or the patient is pregnant, hemoglobin electrophoresis can be performed. If both of these are normal, thalassemia can basically be ruled out.

If it is still uncertain, genetic testing for thalassemia can be performed in the end.

Prenatal check-up: Amniocentesis at 16 weeks can confirm

For couples with thalassemia genes, after pregnancy, prenatal examinations can be used to determine whether the fetus has thalassemia.

Women can detect whether the fetus has the thalassemia gene by undergoing chorionic villus sampling at 12 weeks of pregnancy, amniocentesis between 16-20 weeks of pregnancy, or umbilical cord puncture after 24 weeks of pregnancy. Once intermediate or severe thalassemia is detected, induced labor is recommended.

In addition, there is a more direct method, which is to choose the third-generation test tube baby technology to help mothers conceive healthy babies through in vitro embryo genetic screening, thus avoiding the need for induced abortion.